Variant report

Variant	rs56065771
Chromosome Location	chr2:63001019-63001020
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:62931224..62934812-chr2:63000900..63004540,3	K562	blood:
2	chr2:63000842..63003590-chr2:63004331..63006276,2	MCF-7	breast:
3	chr2:62682679..62685054-chr2:63000979..63003135,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115504	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs13003895	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13398408	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34503992	0.83[AMR][1000 genomes]
rs36009942	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs360786	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs360798	0.81[ASN][1000 genomes]
rs67657712	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916190	chr2:62233785-63006200	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv932487	chr2:62258290-63006200	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv1577156	chr2:63001007-63001020	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:62953600-63001200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:62958200-63010200	Weak transcription	Primary B cells from cord blood	blood
3	chr2:62961200-63011600	Weak transcription	NHLF	lung
4	chr2:62974200-63017200	Weak transcription	Primary T cells from cord blood	blood
5	chr2:62982200-63009800	Weak transcription	Fetal Intestine Small	intestine
6	chr2:62982200-63033400	Weak transcription	Fetal Intestine Large	intestine
7	chr2:62982400-63006200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:62984400-63009800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:62987800-63001600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:62988000-63009600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:62988000-63010400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:62988000-63012400	Weak transcription	HSMM	muscle
13	chr2:62988200-63012400	Weak transcription	HMEC	breast
14	chr2:62991800-63003200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:62992200-63001600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:62993400-63001800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:62993400-63007000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:62993600-63001200	Weak transcription	Ovary	ovary
19	chr2:62993600-63004800	Weak transcription	Adipose Nuclei	Adipose
20	chr2:62994400-63001600	Weak transcription	NHDF-Ad	bronchial
21	chr2:62994800-63010200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:62995600-63002000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr2:62995800-63001600	Weak transcription	Osteobl	bone
24	chr2:62996400-63001600	Weak transcription	NH-A	brain
25	chr2:62997200-63001800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:62998200-63001800	Weak transcription	NHEK	skin
27	chr2:62999400-63001200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:62999400-63001400	Genic enhancers	A549	lung
29	chr2:62999600-63002000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:63000200-63001400	Weak transcription	Liver	Liver
31	chr2:63000200-63003400	Genic enhancers	HepG2	liver
32	chr2:63000400-63001400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr2:63000400-63001600	Weak transcription	Colon Smooth Muscle	Colon
34	chr2:63000600-63004000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:63000800-63009200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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